非综合征型胸主动脉瘤/主动脉夹层的基因学研究进展  

Advances in the Genetic Research of Non-syndromic Thoracic Aortic Aneurysm or Aortic Dissection

作　　者：田一丹 支爱华[1,2] TIAN Yidan;ZHI Aihua(Department of Radiology,National Center for Cardiovascular Diseases and Fuwai Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100037,China;Department of Radiology,Fuwai Yunnan Hospital,Chinese Academy of Medical Sciences/Affiliated Cardiovascular Hospital of Kunming Medical University,Kunming 650102,China)

机构地区：[1]中国医学科学院,北京协和医学院,国家心血管病中心,阜外医院放射影像科,北京100037 [2]云南省阜外心血管病医院/昆明医科大学附属心血管病医院放射影像科,昆明650102

出　　处：《中国循环杂志》2025年第4期406-410,共5页Chinese Circulation Journal

基　　金：云南省科技厅昆医联合专项重点项目(202401AY070001-373)。

摘　　要：非综合征型胸主动脉瘤/主动脉夹层(TAAD)是一种高致死率的心血管疾病。研究表明,TAAD具有明确的遗传基础,基因突变在疾病的发生发展中起关键作用,与发病年龄、临床表现及主动脉夹层风险相关。不同突变类型可能决定疾病的进展速度和个体的治疗反应。基因筛查是识别高风险人群的重要手段,为疾病的早期干预和管理提供科学依据,同时可推动精准医疗的实施。本文将对与非综合征型TAAD相关的最新基因突变研究进展进行系统综述。Non-syndromic thoracic aortic aneurysm or aortic dissection(TAAD)is a cardiovascular disease with high lethality rate.Researches have indicated that TAAD has a definite genetic basis.Genetic mutations play a crucial role in the disease's development and are associated with the age of onset,clinical symptoms,and the risk of aortic dissection.The rate of disease progression and the therapeutic response of individuals may vary depending on the type of mutation.Genetic screening is a crucial tool for identifying high-risk populations,which provides a scientific basis for early disease intervention and management and facilitates the implementation of precision medicine.In this article,we present a systematic review of the latest advancements in the research on gene mutations associated with non-syndromic TAAD.

关 键 词：胸主动脉瘤 夹层 基因检测 基因型 

分 类 号：R54[医药卫生—心血管疾病]